Linked Data
dbSNP Id:
rs910496320
gnomAD v2:
16-731661-G-A
gnomAD v3:
16-681661-G-A
gnomAD v4:
16-681661-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681661G>A , CM000678.2:g.681661G>A | GRCh38 |
| NC_000016.9:g.731661G>A , CM000678.1:g.731661G>A | GRCh37 |
| NC_000016.8:g.671662G>A | NCBI36 |
| NG_034141.1:g.6551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.524+58G>A (STUB1) MANE Select | ENSP00000219548.4:n.524+58G>A | |
| ENST00000219548.8:c.524+58G>A (STUB1) | ENSP00000219548.4:n.524+58G>A | |
| ENST00000563505.5:n.620+58G>A (STUB1) | ||
| ENST00000564316.1:c.123+58G>A (STUB1) | ||
| ENST00000564370.5:c.308+58G>A (STUB1) | ENSP00000456875.1:n.308+58G>A | |
| ENST00000565677.5:c.308+58G>A (STUB1) | ENSP00000457228.1:n.308+58G>A | |
| ENST00000566181.2:n.293+58G>A (STUB1) | ||
| ENST00000566408.5:c.241+58G>A (STUB1) | ||
| ENST00000567173.5:c.467+58G>A (STUB1) | ENSP00000456591.1:n.467+58G>A | |
| ENST00000569248.5:n.1098+58G>A (STUB1) | ||
| ENST00000620831.4:c.-50+38358G>A (MSLN) | ENSP00000482893.1:n.-50+38358G>A | |
| NM_001293197.1:c.308+58G>A (STUB1) | NP_001280126.1:n.308+58G>A | |
| NM_005861.3:c.524+58G>A (STUB1) | NP_005852.2:n.524+58G>A | |
| NM_005861.4:c.524+58G>A (STUB1) MANE Select | NP_005852.2:n.524+58G>A | |
| NM_001293197.2:c.308+58G>A (STUB1) | NP_001280126.1:n.308+58G>A |